Expansion of PURA-Related Phenotypes and Discovery of a Novel PURA Variant: A Case Report

Variants in PURA have recently been associated with an autosomal dominant form of PURA-related neurodevelopmental disorders. Using whole exome sequencing, patients with neurological phenotypes including hypotonia, developmental delay, learning disabilities, and seizures were identified to have de no...

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Detalles Bibliográficos
Autores principales: Boczek, Nicole J., Macke, Erica L., Kemppainen, Jennifer, Klee, Eric W., Renaud, Deborah L., Gavrilova, Ralitza H.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: SAGE Publications 2020
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7573717/
https://www.ncbi.nlm.nih.gov/pubmed/33117858
http://dx.doi.org/10.1177/2329048X20955003

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7573717/
https://www.ncbi.nlm.nih.gov/pubmed/33117858
http://dx.doi.org/10.1177/2329048X20955003

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